Incidental Mutation 'IGL02078:Clta'
ID 186021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clta
Ensembl Gene ENSMUSG00000028478
Gene Name clathrin light chain A
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.522) question?
Stock # IGL02078
Quality Score
Status
Chromosome 4
Chromosomal Location 44004452-44032846 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44030232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 168 (F168S)
Ref Sequence ENSEMBL: ENSMUSP00000103481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030201] [ENSMUST00000107845] [ENSMUST00000107846] [ENSMUST00000107847] [ENSMUST00000107849] [ENSMUST00000107851] [ENSMUST00000170241]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030201
SMART Domains Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479

DomainStartEndE-ValueType
Pfam:Epimerase_2 63 406 2.3e-69 PFAM
Pfam:ROK 440 747 1.4e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107845
SMART Domains Protein: ENSMUSP00000103477
Gene: ENSMUSG00000028478

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 215 1.4e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107846
SMART Domains Protein: ENSMUSP00000103478
Gene: ENSMUSG00000028478

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 217 1.1e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107847
SMART Domains Protein: ENSMUSP00000103479
Gene: ENSMUSG00000028478

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 229 2e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107849
AA Change: F168S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103481
Gene: ENSMUSG00000028478
AA Change: F168S

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 235 3.5e-71 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107851
AA Change: F168S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103483
Gene: ENSMUSG00000028478
AA Change: F168S

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 15 247 4.1e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170241
SMART Domains Protein: ENSMUSP00000127344
Gene: ENSMUSG00000028478

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 217 1.1e-73 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,888,179 (GRCm39) D87G probably benign Het
Acap1 C T 11: 69,786,112 (GRCm39) R18Q probably damaging Het
Atp1a1 A C 3: 101,499,179 (GRCm39) V140G probably damaging Het
Bmpr1b G A 3: 141,576,498 (GRCm39) P112S possibly damaging Het
Chst8 T A 7: 34,374,759 (GRCm39) N360I possibly damaging Het
Cldn23 A T 8: 36,293,359 (GRCm39) V43E possibly damaging Het
Cyp2c40 T C 19: 39,755,926 (GRCm39) I463V probably benign Het
E2f2 A G 4: 135,920,323 (GRCm39) D436G probably damaging Het
Fbxo24 T G 5: 137,622,611 (GRCm39) T52P probably damaging Het
Gria4 G A 9: 4,793,878 (GRCm39) A60V probably damaging Het
Grm1 C T 10: 10,565,354 (GRCm39) V985M probably benign Het
Hexa A G 9: 59,464,586 (GRCm39) T159A probably benign Het
Inf2 T A 12: 112,568,048 (GRCm39) V200E probably damaging Het
Kif20b T A 19: 34,913,044 (GRCm39) V319E probably damaging Het
Klhl10 A G 11: 100,336,577 (GRCm39) D188G probably benign Het
Mobp G A 9: 119,996,980 (GRCm39) R37H probably damaging Het
Mybpc2 T A 7: 44,153,204 (GRCm39) D1086V probably damaging Het
Nadk A C 4: 155,663,860 (GRCm39) probably benign Het
Or7g33 T A 9: 19,448,749 (GRCm39) H159L probably benign Het
Per1 A G 11: 68,995,125 (GRCm39) E619G probably damaging Het
Rab3gap1 G A 1: 127,796,652 (GRCm39) probably benign Het
Rimkla A G 4: 119,325,344 (GRCm39) L355P probably damaging Het
Rnf139 A G 15: 58,771,880 (GRCm39) D635G possibly damaging Het
Sall1 T A 8: 89,757,003 (GRCm39) N1034Y probably damaging Het
Serpinb13 A T 1: 106,926,688 (GRCm39) Q228L probably damaging Het
Sin3b G T 8: 73,480,208 (GRCm39) M903I possibly damaging Het
Slco1a5 A T 6: 142,200,172 (GRCm39) M204K probably benign Het
Smo A G 6: 29,754,707 (GRCm39) D259G possibly damaging Het
Spata31g1 A C 4: 42,972,685 (GRCm39) K673Q possibly damaging Het
Sult2a4 T C 7: 13,723,469 (GRCm39) I15M probably benign Het
Ttn T A 2: 76,772,785 (GRCm39) probably null Het
Wdtc1 C A 4: 133,033,271 (GRCm39) D176Y probably damaging Het
Other mutations in Clta
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02414:Clta APN 4 44,030,274 (GRCm39) intron probably benign
IGL03184:Clta APN 4 44,025,514 (GRCm39) missense probably benign 0.12
R0129:Clta UTSW 4 44,032,424 (GRCm39) missense probably benign 0.02
R2248:Clta UTSW 4 44,012,852 (GRCm39) missense probably damaging 1.00
R4489:Clta UTSW 4 44,032,417 (GRCm39) missense probably damaging 0.99
R4599:Clta UTSW 4 44,012,819 (GRCm39) missense probably damaging 1.00
R7432:Clta UTSW 4 44,032,419 (GRCm39) missense possibly damaging 0.79
R7649:Clta UTSW 4 44,025,494 (GRCm39) missense possibly damaging 0.65
Posted On 2014-05-07